rs6502867
This variant is located in the NLRP1 gene.
▶Research that mentions this SNP (1)
▶Genetic association of NALP1 with generalized vitiligo in Jordanian ArabsAssociationN=87Asem Alkhateeb et al.(2010)· Archives of Dermatological Research
A case-control association study of 26 Jordanian Arab vitiligo patients and 61 controls found that two SNPs in the NALP1 (NLRP1) extended promoter region, rs1008588 (P=0.027 allelic, P=0.021 genotypic) and rs2670660 (P=0.038 allelic, P=0.067 genotypic), were significantly associated with generalized vitiligo susceptibility. This replicates previous findings in Caucasian cohorts but suggests different genetic architectures between populations.
About NLRP1
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
View all NLRP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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